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MTOR mechanistic target of rapamycin kinase [ Homo sapiens (human) ]

Gene ID: 2475, updated on 1-Jun-2020

Summary

Official Symbol
MTORprovided by HGNC
Official Full Name
mechanistic target of rapamycin kinaseprovided by HGNC
Primary source
HGNC:HGNC:3942
See related
Ensembl:ENSG00000198793 MIM:601231
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
SKS; FRAP; FRAP1; FRAP2; RAFT1; RAPT1
Summary
The protein encoded by this gene belongs to a family of phosphatidylinositol kinase-related kinases. These kinases mediate cellular responses to stresses such as DNA damage and nutrient deprivation. This protein acts as the target for the cell-cycle arrest and immunosuppressive effects of the FKBP12-rapamycin complex. The ANGPTL7 gene is located in an intron of this gene. [provided by RefSeq, Sep 2008]
Expression
Broad expression in testis (RPKM 23.6), brain (RPKM 8.1) and 25 other tissues See more
Orthologs

Genomic context

See MTOR in Genome Data Viewer
Location:
1p36.22
Exon count:
60
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (11106535..11273497, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (11166588..11322614, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene exosome component 10 Neighboring gene spermidine synthase Neighboring gene EXOSC10 antisense RNA 1 Neighboring gene MTOR antisense RNA 1 Neighboring gene RNA, U6 small nuclear 537, pseudogene Neighboring gene angiopoietin like 7 Neighboring gene RNA, U6 small nuclear 291, pseudogene Neighboring gene ribosomal protein L39 pseudogene 6 Neighboring gene ubiquitin conjugating enzyme E2 V2 pseudogene 3 Neighboring gene UbiA prenyltransferase domain containing 1 Neighboring gene uncharacterized LOC105376737

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Focal cortical dysplasia type II
MedGen: C1846385 OMIM: 607341 GeneReviews: Not available
Compare labs
Smith-Kingsmore syndrome
MedGen: C4225259 OMIM: 616638 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
Association of variants in FRAP1 and PDGFRA with corneal curvature in Asian populations from Singapore.
NHGRI GWA Catalog
CMPK1 and RBP3 are associated with corneal curvature in Asian populations.
NHGRI GWA Catalog

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Envelope surface glycoprotein gp120 env Syncytia arising from the fusion of cells expressing HIV-1 gp120 with cells expressing the CD4/CXCR4 complex causes phosphorylation of p53, which is mediated by the upregulation of mammalian target of FKBP12-rapamycin-associated protein (FRAP) PubMed
Nef nef HIV-1 Nef synergizes with KSHV oncoprotein K1 to activate PI3K/AKT/mTOR signaling pathway, and induces cell proliferation and microtubule formation in endothelial cells PubMed
Tat tat HIV-1 Tat induces phosphorylation of mTOR in Tat-expressing cells and HIV-1-infected cells PubMed
capsid gag Treatment with Torin 1, mTOR kinase inhibitor, significantly downregulates HIV-1 p24 levels in HIV-1-infected primary CD4+ T cells, Jurkat cells, and MOLT-X4 cells, suggesting mTOR kinase regulates HIV-1 production PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ44809

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
RNA polymerase III type 1 promoter sequence-specific DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
RNA polymerase III type 2 promoter sequence-specific DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
RNA polymerase III type 3 promoter sequence-specific DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
TFIIIC-class transcription factor complex binding IDA
Inferred from Direct Assay
more info
PubMed 
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
kinase activity IDA
Inferred from Direct Assay
more info
PubMed 
kinase activity TAS
Traceable Author Statement
more info
PubMed 
phosphoprotein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein domain specific binding IEA
Inferred from Electronic Annotation
more info
 
protein kinase activity IDA
Inferred from Direct Assay
more info
PubMed 
protein kinase binding IEA
Inferred from Electronic Annotation
more info
 
protein serine/threonine kinase activity EXP
Inferred from Experiment
more info
PubMed 
protein serine/threonine kinase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein serine/threonine kinase activity IDA
Inferred from Direct Assay
more info
PubMed 
protein serine/threonine kinase activity TAS
Traceable Author Statement
more info
 
ribosome binding IEA
Inferred from Electronic Annotation
more info
 
translation regulator activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
'de novo' pyrimidine nucleobase biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
T-helper 1 cell lineage commitment IEA
Inferred from Electronic Annotation
more info
 
TOR signaling IMP
Inferred from Mutant Phenotype
more info
PubMed 
TOR signaling NAS
Non-traceable Author Statement
more info
PubMed 
TORC1 signaling IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
TORC1 signaling IDA
Inferred from Direct Assay
more info
PubMed 
TORC1 signaling IMP
Inferred from Mutant Phenotype
more info
PubMed 
activation of protein kinase B activity TAS
Traceable Author Statement
more info
 
anoikis NAS
Non-traceable Author Statement
more info
PubMed 
brain development IEA
Inferred from Electronic Annotation
more info
 
cardiac muscle cell development IEA
Inferred from Electronic Annotation
more info
 
cardiac muscle contraction IEA
Inferred from Electronic Annotation
more info
 
cell aging IEA
Inferred from Electronic Annotation
more info
 
cell cycle arrest TAS
Traceable Author Statement
more info
 
cellular response to amino acid starvation IDA
Inferred from Direct Assay
more info
PubMed 
cellular response to amino acid stimulus IDA
Inferred from Direct Assay
more info
PubMed 
cellular response to hypoxia ISS
Inferred from Sequence or Structural Similarity
more info
 
cellular response to leucine IDA
Inferred from Direct Assay
more info
PubMed 
cellular response to leucine starvation IDA
Inferred from Direct Assay
more info
PubMed 
cellular response to nutrient levels ISS
Inferred from Sequence or Structural Similarity
more info
 
cellular response to starvation IDA
Inferred from Direct Assay
more info
PubMed 
energy reserve metabolic process IEA
Inferred from Electronic Annotation
more info
 
germ cell development IEA
Inferred from Electronic Annotation
more info
 
heart morphogenesis IEA
Inferred from Electronic Annotation
more info
 
heart valve morphogenesis IEA
Inferred from Electronic Annotation
more info
 
long-term memory IEA
Inferred from Electronic Annotation
more info
 
lysosome organization IDA
Inferred from Direct Assay
more info
PubMed 
mRNA stabilization IEA
Inferred from Electronic Annotation
more info
 
maternal process involved in female pregnancy IEA
Inferred from Electronic Annotation
more info
 
multicellular organism growth IEA
Inferred from Electronic Annotation
more info
 
negative regulation of autophagy IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of autophagy IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of autophagy IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of autophagy ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of calcineurin-NFAT signaling cascade IEA
Inferred from Electronic Annotation
more info
 
negative regulation of cell size IEA
Inferred from Electronic Annotation
more info
 
negative regulation of cholangiocyte apoptotic process IEA
Inferred from Electronic Annotation
more info
 
negative regulation of iodide transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
negative regulation of macroautophagy IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of macroautophagy IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of muscle atrophy IEA
Inferred from Electronic Annotation
more info
 
negative regulation of protein phosphorylation IEA
Inferred from Electronic Annotation
more info
 
negative regulation of protein ubiquitination IEA
Inferred from Electronic Annotation
more info
 
nucleus localization IDA
Inferred from Direct Assay
more info
PubMed 
peptidyl-serine phosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
peptidyl-serine phosphorylation IMP
Inferred from Mutant Phenotype
more info
PubMed 
peptidyl-serine phosphorylation ISS
Inferred from Sequence or Structural Similarity
more info
 
peptidyl-threonine phosphorylation IEA
Inferred from Electronic Annotation
more info
 
phosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of actin filament polymerization IEA
Inferred from Electronic Annotation
more info
 
positive regulation of cell growth involved in cardiac muscle cell development IEA
Inferred from Electronic Annotation
more info
 
positive regulation of cholangiocyte proliferation IEA
Inferred from Electronic Annotation
more info
 
positive regulation of cytoplasmic translational initiation TAS
Traceable Author Statement
more info
PubMed 
positive regulation of dendritic spine development IEA
Inferred from Electronic Annotation
more info
 
positive regulation of eating behavior IEA
Inferred from Electronic Annotation
more info
 
positive regulation of endothelial cell proliferation IEA
Inferred from Electronic Annotation
more info
 
positive regulation of epithelial to mesenchymal transition IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of gene expression IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of glial cell proliferation IEA
Inferred from Electronic Annotation
more info
 
positive regulation of granulosa cell proliferation IEA
Inferred from Electronic Annotation
more info
 
positive regulation of keratinocyte migration IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of lamellipodium assembly IEA
Inferred from Electronic Annotation
more info
 
positive regulation of lipid biosynthetic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of myotube differentiation IEA
Inferred from Electronic Annotation
more info
 
positive regulation of neuron death IEA
Inferred from Electronic Annotation
more info
 
positive regulation of neuron maturation IEA
Inferred from Electronic Annotation
more info
 
positive regulation of nitric oxide biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
positive regulation of oligodendrocyte differentiation IEA
Inferred from Electronic Annotation
more info
 
positive regulation of peptidyl-tyrosine phosphorylation IEA
Inferred from Electronic Annotation
more info
 
positive regulation of phosphoprotein phosphatase activity TAS
Traceable Author Statement
more info
PubMed 
positive regulation of protein kinase B signaling IEA
Inferred from Electronic Annotation
more info
 
positive regulation of protein phosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of sensory perception of pain IEA
Inferred from Electronic Annotation
more info
 
positive regulation of skeletal muscle hypertrophy IEA
Inferred from Electronic Annotation
more info
 
positive regulation of smooth muscle cell proliferation IEA
Inferred from Electronic Annotation
more info
 
positive regulation of stress fiber assembly IEA
Inferred from Electronic Annotation
more info
 
positive regulation of transcription by RNA polymerase III IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of transcription of nucleolar large rRNA by RNA polymerase I IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of translation IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of wound healing, spreading of epidermal cells IMP
Inferred from Mutant Phenotype
more info
PubMed 
post-embryonic development IEA
Inferred from Electronic Annotation
more info
 
protein autophosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
protein catabolic process TAS
Traceable Author Statement
more info
PubMed 
protein phosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
protein phosphorylation IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of GTPase activity IEA
Inferred from Electronic Annotation
more info
 
regulation of actin cytoskeleton organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of brown fat cell differentiation IEA
Inferred from Electronic Annotation
more info
 
regulation of carbohydrate utilization IEA
Inferred from Electronic Annotation
more info
 
regulation of cell growth IDA
Inferred from Direct Assay
more info
PubMed 
regulation of cell size IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of cellular response to heat TAS
Traceable Author Statement
more info
 
regulation of circadian rhythm ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of fatty acid beta-oxidation IEA
Inferred from Electronic Annotation
more info
 
regulation of glycogen biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
regulation of locomotor rhythm ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of macroautophagy TAS
Traceable Author Statement
more info
 
regulation of membrane permeability IEA
Inferred from Electronic Annotation
more info
 
regulation of myelination IEA
Inferred from Electronic Annotation
more info
 
regulation of osteoclast differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of response to food IEA
Inferred from Electronic Annotation
more info
 
regulation of translation at synapse, modulating synaptic transmission IEA
Inferred from Electronic Annotation
more info
 
response to activity IEA
Inferred from Electronic Annotation
more info
 
response to amino acid IDA
Inferred from Direct Assay
more info
PubMed 
response to cocaine IEA
Inferred from Electronic Annotation
more info
 
response to insulin IEA
Inferred from Electronic Annotation
more info
 
response to morphine IEA
Inferred from Electronic Annotation
more info
 
response to nutrient IMP
Inferred from Mutant Phenotype
more info
PubMed 
response to nutrient levels IDA
Inferred from Direct Assay
more info
PubMed 
rhythmic process IEA
Inferred from Electronic Annotation
more info
 
ruffle organization IEA
Inferred from Electronic Annotation
more info
 
social behavior IEA
Inferred from Electronic Annotation
more info
 
spinal cord development IEA
Inferred from Electronic Annotation
more info
 
visual learning IEA
Inferred from Electronic Annotation
more info
 
voluntary musculoskeletal movement IEA
Inferred from Electronic Annotation
more info
 
wound healing IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
Golgi membrane IEA
Inferred from Electronic Annotation
more info
 
colocalizes_with PML body ISS
Inferred from Sequence or Structural Similarity
more info
 
TORC1 complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
TORC1 complex IDA
Inferred from Direct Assay
more info
PubMed 
TORC1 complex IMP
Inferred from Mutant Phenotype
more info
PubMed 
TORC2 complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
TORC2 complex IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
dendrite IEA
Inferred from Electronic Annotation
more info
 
endomembrane system IDA
Inferred from Direct Assay
more info
PubMed 
endoplasmic reticulum membrane IEA
Inferred from Electronic Annotation
more info
 
glutamatergic synapse IEA
Inferred from Electronic Annotation
more info
 
lysosomal membrane HDA PubMed 
lysosomal membrane IDA
Inferred from Direct Assay
more info
PubMed 
lysosome IDA
Inferred from Direct Assay
more info
PubMed 
lysosome IMP
Inferred from Mutant Phenotype
more info
PubMed 
membrane HDA PubMed 
membrane IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrial outer membrane IEA
Inferred from Electronic Annotation
more info
 
neuronal cell body IEA
Inferred from Electronic Annotation
more info
 
nuclear envelope IDA
Inferred from Direct Assay
more info
PubMed 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
postsynaptic cytosol IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
serine/threonine-protein kinase mTOR
Names
FK506 binding protein 12-rapamycin associated protein 2
FK506-binding protein 12-rapamycin complex-associated protein 1
FKBP-rapamycin associated protein
FKBP12-rapamycin complex-associated protein 1
mammalian target of rapamycin
mechanistic target of rapamycin (serine/threonine kinase)
rapamycin and FKBP12 target 1
rapamycin associated protein FRAP2
rapamycin target protein 1
NP_004949.1
XP_005263495.1
XP_011539468.1
XP_016856389.1
XP_016856390.1
XP_016856391.1
XP_024301955.1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_033239.1 RefSeqGene

    Range
    5001..161021
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_734

mRNA and Protein(s)

  1. NM_004958.4NP_004949.1  serine/threonine-protein kinase mTOR

    See identical proteins and their annotated locations for NP_004949.1

    Status: REVIEWED

    Source sequence(s)
    AA725390, AB209995, BC117166, BP250183, DC403129, L34075, U88966
    Consensus CDS
    CCDS127.1
    UniProtKB/Swiss-Prot
    P42345
    Related
    ENSP00000354558.4, ENST00000361445.9
    Conserved Domains (2) summary
    COG5032
    Location:3632549
    TEL1; Phosphatidylinositol kinase or protein kinase, PI-3 family [Signal transduction mechanisms]
    sd00044
    Location:655681
    HEAT; HEAT repeat [structural motif]

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    11106535..11273497 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024446187.1XP_024301955.1  serine/threonine-protein kinase mTOR isoform X1

    Conserved Domains (2) summary
    COG5032
    Location:3632549
    TEL1; Phosphatidylinositol kinase or protein kinase, PI-3 family [Signal transduction mechanisms]
    sd00044
    Location:655681
    HEAT; HEAT repeat [structural motif]
  2. XM_005263438.2XP_005263495.1  serine/threonine-protein kinase mTOR isoform X1

    See identical proteins and their annotated locations for XP_005263495.1

    UniProtKB/Swiss-Prot
    P42345
    Conserved Domains (2) summary
    COG5032
    Location:3632549
    TEL1; Phosphatidylinositol kinase or protein kinase, PI-3 family [Signal transduction mechanisms]
    sd00044
    Location:655681
    HEAT; HEAT repeat [structural motif]
  3. XM_017000901.1XP_016856390.1  serine/threonine-protein kinase mTOR isoform X3

  4. XM_017000900.1XP_016856389.1  serine/threonine-protein kinase mTOR isoform X2

  5. XM_011541166.2XP_011539468.1  serine/threonine-protein kinase mTOR isoform X4

    Conserved Domains (3) summary
    COG5032
    Location:3631587
    TEL1; Phosphatidylinositol kinase or protein kinase, PI-3 family [Signal transduction mechanisms]
    pfam11865
    Location:8541024
    DUF3385; Domain of unknown function (DUF3385)
    sd00044
    Location:655681
    HEAT; HEAT repeat [structural motif]
  6. XM_017000902.1XP_016856391.1  serine/threonine-protein kinase mTOR isoform X5

RNA

  1. XR_001737087.1 RNA Sequence

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